Variant report

Variant	rs4246975
Chromosome Location	chr14:33061837-33061838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:33046699..33049313-chr14:33061563..33064082,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1028536	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1158841	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628548	1.00[ASN][1000 genomes]
rs1950703	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1956211	0.86[CEU][hapmap]
rs1956221	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1957010	1.00[CHB][hapmap]
rs4462503	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6571550	1.00[ASN][1000 genomes]
rs7145886	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33035400-33062600	Weak transcription	Aorta	Aorta
2	chr14:33046000-33063000	Weak transcription	Ovary	ovary
3	chr14:33057000-33062000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:33057800-33078200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:33058200-33067400	Enhancers	NHDF-Ad	bronchial
6	chr14:33058400-33062000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:33058600-33062200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:33058600-33063800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:33058600-33063800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr14:33059200-33062000	Weak transcription	Right Ventricle	heart
11	chr14:33059200-33062400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:33059200-33063600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr14:33059400-33064600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr14:33059400-33072000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:33059600-33062000	Weak transcription	NHLF	lung
16	chr14:33059600-33063000	Weak transcription	Right Atrium	heart
17	chr14:33059800-33062200	Weak transcription	Brain Anterior Caudate	brain
18	chr14:33060200-33064800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:33060600-33062200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:33060600-33062200	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:33060800-33066400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:33061000-33067400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr14:33061200-33064600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:33061200-33064800	Enhancers	HSMMtube	muscle
25	chr14:33061400-33067200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:33061600-33063000	Enhancers	Brain Substantia Nigra	brain
27	chr14:33061600-33063200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr14:33061600-33063400	Enhancers	Left Ventricle	heart
29	chr14:33061600-33064800	Enhancers	HSMM	muscle
30	chr14:33061600-33065000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:33061600-33067800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:33061800-33062200	Weak transcription	Psoas Muscle	Psoas
33	chr14:33061800-33062600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr14:33061800-33063600	Enhancers	Fetal Heart	heart
35	chr14:33061800-33064600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:33061800-33064600	Enhancers	NH-A	brain
37	chr14:33061800-33067400	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links